X-linked cone dysfunction syndrome with myopia
X-linked cone dysfunction syndrome with myopia
Definition
X-linked cone dysfunction syndrome with myopia is characterized by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.
Also known as Bornholm eye disease, Bornholm eye disease, X-linked recessive — per MONDO